The test helps differentiate retinitis pigmentosa (RP) and RP-related disorders. By finding out the disease-causing gene and inheritance pattern, it can help understand the disease prognosis and treatment strategy.
|Variant calling – SNP||>99%*#|
|Variant calling – Indel||>99%*#|
* Passed GenQA/UK NEQAS external quality assurance
# The interpretation of sequencing variants is based on the current understanding of the variants at the time it was observed, which may change over time as more information about the genes becomes available. Not all variants are represented in this report.